A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3972170



Internal ID19243998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:51179062..51179132hg38UCSC Ensembl
Outerchr18:48705432..48705502hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1123178
Supporting Variants
SamplesKWS2
Known GenesMEX3C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3972170
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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